Irish journal of medical science
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Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, arthritis, and erysipelas-like-erythema, common among ethnic groups such as Turkish, Armenian, Arab, and Jewish. The disease is caused by mutations in the MEFV gene encoding the Pyrin. This study examines the genotypes of FMF patients from Amasya, Turkey. ⋯ The fact that the R202Q genotype, which is compatible with the known FMF clinic, is frequently seen shows that it should be included in routine molecular screenings of the patients. Functional studies of the R202Q variant pyrin protein should be performed to understand FMF better. Finally, it is unclear whether the R202Q genotype might be regarded as a mutation while being approved as a polymorphism in the inFevers database.
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Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, caused by CGG-repeats expansion (> 200 repeats). Premutation alleles (PM) (55-200 CGG repeats) are associated with tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and autistic problems. ⋯ Molecular diagnostic assay including (MS-PCR) and (qRT-PCR) proved to be a sensitive and rapid screening tool for the detection of premutation cases. Furthermore, the presence of positive correlation between FMR1 mRNA expression levels with CGG repeats in premutation cases could serve as a potential diagnostic marker. Application of these diagnostic tools on larger number clinically suspected cases is recommended.
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Replacement of thyroid hormones (TH) with Levothyroxine (LT4) is the treatment of choice for hypothyroidism, however, there are aspects of treatment where uncertainties exist and practice varies. Factors influencing initiation and choice of TH replacement may impact patient satisfaction, safety, and health care costs. ⋯ LT4 tablets are the treatment of choice for hypothyroidism in Ireland. Approximately a third of Irish endocrinologists either regularly use, or would consider, liothyronine for hypothyroid patients. A significant proportion would give TH to euthyroid individuals in specific circumstances. The prescription of TH amongst Irish endocrinologists was generally in keeping with recommended practice, and areas where practice deviated from guidance were typically where evidence was conflicting or insufficient.
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Clinical genetics is an under-resourced service in the Republic of Ireland. There can be a number of avenues that lead to barriers in patient triage noted within the department. ⋯ The majority of referrals are rejected for non-enclosure of patient genetic reports. Many referrals would have accepted to the waiting list if the appropriate report had been attached. This means patients at risk of genetic disorders are not accessing clinical services because the referrer is not providing the necessary information to allow triage. Active management of the waiting list via upfront letters is costly, with a 57% response rate. Should similar rejection rates exist in other specialities, we estimate this would equate to a cost of €2,714,214.40/year to the HSE.
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Caregiving, which is often described as a stressful job due to the patience and dedication it requires, affects the physical and mental health of the employees of the profession due to various factors. ⋯ In this study, it was observed that low back and neck pain experience has negative effects on individuals' posture, burnout levels, and quality of life.